CLMP CXADR like membrane protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLMPprovided by HGNC
Official Full Name: CXADR like membrane proteinprovided by HGNC
Primary source: HGNC:HGNC:24039
See related: Ensembl:ENSG00000166250 MIM:611693; AllianceGenome:HGNC:24039
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACAM; ASAM; CSBM; CSBS
Summary: This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015]
Expression: Broad expression in fat (RPKM 45.1), endometrium (RPKM 20.9) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (123069872..123195248, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (123098457..123223763, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (122940580..123065956, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CXADR-Like Membrane Protein Regulates Colonic Epithelial Cell Proliferation and Prevents Tumor Growth.
Title: CXADR-Like Membrane Protein Regulates Colonic Epithelial Cell Proliferation and Prevents Tumor Growth.
CLMP Promotes Leukocyte Migration Across Brain Barriers in Multiple Sclerosis.
Title: CLMP Promotes Leukocyte Migration Across Brain Barriers in Multiple Sclerosis.
We describe a newborn presenting CSBS intestinal malrotation and chronic intestinal pseudo-obstruction syndrome (CIPS), compound heterozygous for two previously unreported heterozygous mutations in Coxsackie and adenovirus receptor-like membrane protein (CLMP) gene. We identified two heterozygous mutations in CLMP, one in intron 1 (c.28+1G>C) from the father, the other on exon 4 (c502C>T, p.R168X) from the mother.
Title: Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.
Inhibition of CFTR or histone deacetylase (HDAC) enhanced CAR expression while CFTR overexpression or restoration of the diminished HDAC activity in cystic fibrosis cells reduced CAR expression.
Title: Regulation of the Coxsackie and adenovirus receptor expression is dependent on cystic fibrosis transmembrane regulator in airway epithelial cells.
Novel inherited variants in CLMP were identified in three congenital short bowel syndrome patients derived from two unrelated families.
Title: Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.
The key processes involved in intestinal epithelial development appear to be unaffected by wild type-CLMP or mutant-CLMP.
Title: CLMP is essential for intestinal development, but does not play a key role in cellular processes involved in intestinal epithelial development.
Coxsackievirus and adenovirus receptor gene expression is induced in esophageal cancer cells by the HDAC inhibitor trichostatin A.
Title: Coxsackievirus and adenovirus receptor promotes antitumor activity of oncolytic adenovirus H101 in esophageal cancer.
The PDZ1 and PDZ3 domains of MAGI-1 regulate the eight-exon isoform of the CXADR-like membrane protein.
Title: The PDZ1 and PDZ3 domains of MAGI-1 regulate the eight-exon isoform of the coxsackievirus and adenovirus receptor.
Loss-of-function mutations in CLMP cause congenital short bowel syndrome in human beings, likely by interfering with tight-junction formation, which disrupts intestinal development.
Title: CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital short bowel syndrome, autosomal recessive MedGen: CN296805 OMIM: 615237 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S1210 (e-PCR)
- UniSTS:1047

D11S2864 (e-PCR)
- UniSTS:152045

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	HDA more info	PubMed
located_in cytoplasmic microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: CXADR-like membrane protein

Names: CAR-like membrane protein; adipocyte-specific adhesion molecule; coxsackie- and adenovirus receptor-like membrane protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042818.2 RefSeqGene

Range

5000..130376

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_024769.5 → NP_079045.1 CXADR-like membrane protein precursor

See identical proteins and their annotated locations for NP_079045.1

Status: REVIEWED

Source sequence(s)

AP000926, AP001970

Consensus CDS

CCDS8441.1

UniProtKB/Swiss-Prot

Q9H6B4

Related

ENSP00000405577.2, ENST00000448775.4

Conserved Domains (2) summary

smart00409
Location:144 → 225

IG; Immunoglobulin

cd20960
Location:13 → 127

IgV_CAR_like; Immunoglobulin Variable (V) domain of the Coxsackievirus and Adenovirus Receptor (CAR), and similar proteins